[HTML][HTML] ESMO/ASCO recommendations for a global curriculum in medical oncology edition 2016
C Dittrich, M Kosty, S Jezdic, D Pyle, R Berardi, J Bergh… - ESMO open, 2016 - Elsevier
ABSTRACT The European Society for Medical Oncology (ESMO) and the American Society
of Clinical Oncology (ASCO) are publishing a new edition of the ESMO/ASCO Global …
of Clinical Oncology (ASCO) are publishing a new edition of the ESMO/ASCO Global …
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
Importance Mitochondrial disorders have emerged as a common cause of inherited disease,
but their diagnosis remains challenging. Multiple respiratory chain complex defects are …
but their diagnosis remains challenging. Multiple respiratory chain complex defects are …
Exome sequencing in undiagnosed inherited and sporadic ataxias
Inherited ataxias are clinically and genetically heterogeneous, and a molecular diagnosis is
not possible in most patients. Having excluded common sporadic, inherited and metabolic …
not possible in most patients. Having excluded common sporadic, inherited and metabolic …
Angiotensin II signal transduction and the mitogen-activated protein kinase pathway
JL Duff, MB Marrero, WG Paxton… - Cardiovascular …, 1995 - academic.oup.com
In this review, the angiotensin-II-mediated signal transduction pathways involved in vascular
smooth muscle cell growth are discussed. Classical pathways involving phospholipase C …
smooth muscle cell growth are discussed. Classical pathways involving phospholipase C …
Genetic heterogeneity of motor neuropathies
B Bansagi, H Griffin, RG Whittaker, T Antoniadi… - Neurology, 2017 - AAN Enterprises
Objective: To study the prevalence, molecular cause, and clinical presentation of hereditary
motor neuropathies in a large cohort of patients from the North of England. Methods …
motor neuropathies in a large cohort of patients from the North of England. Methods …
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
Objective: To define the mechanism responsible for fatigue, lethargy, and weakness in 2
cousins who had a normal muscle biopsy. Methods: Exome sequencing, long-range PCR …
cousins who had a normal muscle biopsy. Methods: Exome sequencing, long-range PCR …
[HTML][HTML] Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Purpose Several hundred genetic muscle diseases have been described, all of which are
rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging …
rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging …
Adequacy of published oncology randomized controlled trials to provide therapeutic details needed for clinical application
JM Duff, H Leather, EO Walden… - Jnci: Journal Of The …, 2010 - academic.oup.com
Abstract Background Randomized controlled trials (RCTs) improve clinical care through
evidence-based results. Guidelines exist for RCT result reporting, but specific details of …
evidence-based results. Guidelines exist for RCT result reporting, but specific details of …
[HTML][HTML] Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
TM Connor, S Hoer, A Mallett, DP Gale… - PLoS …, 2017 - journals.plos.org
Tubulointerstitial kidney disease is an important cause of progressive renal failure whose
aetiology is incompletely understood. We analysed a large pedigree with maternally …
aetiology is incompletely understood. We analysed a large pedigree with maternally …
[HTML][HTML] Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations
Purpose: Mitochondrial disorders are a common cause of inherited metabolic disease and
can be due to mutations affecting mitochondrial DNA or nuclear DNA. The current diagnostic …
can be due to mutations affecting mitochondrial DNA or nuclear DNA. The current diagnostic …